Chapter 4 Flashcards

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1
Q

What is the term for “normal alleles”

A

Wild type
They are made in proper amounts and function normally

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2
Q

What does genetic polymorphism do in large populations

A

Produce more than one wild type

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3
Q

What are mutant alleles

A

Alleles that have been altered by a mutation
They are usually rare and defective in their ability to express a functional protein
They are also usually inherited recessively

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4
Q

When does the recessive allele not affect the phenotype

A

In a simple dominant/recessive relationship

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5
Q

What are the two possible explanations that can explain the wild type phenotype of a heterozygote

A

Half of the normal protein is enough to accomplish the proteins cellular function
The heterozygote may produce more than 50 percent of the functional protein

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6
Q

Why is the normal gene considered to be “upregulated”

A

It has to compensate for the lack of function of the defective allele

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7
Q

Which genotype is considered the loss of function alleles

A

The recessive alleles
In the case of purple and white flowers the white flowers have the homozygous recessive genotype which means they have a 0% functional protein

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8
Q

What is a gain of function mutation

A

The protein encoded by the mutant gene is changed so it gains a new or abnormal function

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9
Q

What is a dominant negative mutation

A

When a protein encoded by the mutant gene acts antagonistically to the normal protein

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10
Q

What is happloinsufficiency mutation

A

This mutant is a loss of function
The heterozygote doesn’t make enough product to give the wild type phenotype

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11
Q

What is incomplete penetrance

A

When a dominant allele doesn’t influence the outcome of a trait in a heterozygote individual
In some cases the individual can carry the dominant allele but they don’t show the trait

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12
Q

What is expressivity

A

The degree at which a trait is expressed
Usually affects phenotypes in the environment and with other modifier genes

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13
Q

What is incomplete dominance

A

When a heterozygote exhibits a phenotype that is an intermediate between the homozygotes of that trait
White and red flowers make pink

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14
Q

Why does a trait being dominant or incomplete dominant depend on how close we look at certain genes

A

Organisms may seem to be expressing dominant traits when they are actually expressing incomplete dominance
A pea may look round but it lacks the amount of starch a homozygous dominant pea has

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15
Q

What is over dominance

A

When a heterozygote has a greater reproductive success compared to both the homozygotes of that trait
They only have a higher success rate however in environments that allow them to be successful
Heterozygote individuals with sickle cell are only more successful in areas where malaria is high but in other places like the US they are not more successful

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16
Q

What is overdominance caused by

A

Two alleles that produce slightly different proteins and a favorable phenotype in the heterozygote

17
Q

What are the three possible explanations for over dominance at a molecular level

A

Disease resistance
Homodimer formation
Variation in functional activity

18
Q

Why do homodimers sometimes have more functionality

A

They have functions from two different dimers giving them functions from both

19
Q

What is codominance

A

When both alleles are expressed in a heterozygote
Blood types are a great example of

20
Q

Why do x linked diseases show affected males with their mothers as carriers

A

Because males inherit only one X gene so if the mother has the gene then the son will too

21
Q

What is pseudoautosomal inheritance

A

Genes found on both the X and Y chromosome
Usually found in homologous regions

22
Q

What is sex influenced inheritance

A

Allele is dominant in one sex but recessive in the opposite sex
These traits are autosomal and the individuals are usually heterozygotes

23
Q

What is sex limited inheritance

A

Traits that occur in one of two sex
The genes are usually controlled by sex hormones
Ovaries developing in females is a good example

24
Q

What is a lethal allele

A

Has the potential to cause death of an organism
Usually inherited in a recessive way and it’s usually the result of a mutation in essential genes

25
Q

What is an essential gene

A

Genes required for survival
The absence of their protein leads to a lethal phenotype

26
Q

What is a conditional lethal allele

A

When a lethal allele may kill an organism but only when certain environmental conditions exist
An example could be a temperature sensitive allele

27
Q

What is a semi lethal allele

A

Kill some individuals in a population but not all of them
Environmental factors and other genes can help prevent effects of semi lethal alleles

28
Q

What is a pleiotropy

A

Multiple affects of a single gene on the phenotype of an organism
Can be caused because the gene product can affect cell function in multiple ways, genes may be expressed in different cell types, and genes may be expressed at different stages of development

29
Q

What are gene interactions

A

When two or more different genes influence outcomes of a single trait
Many traits are affected by contributions of many genes

30
Q

What is epistasis

A

When a gene masks the phenotypic effects of another gene
Usually arise because two or more different proteins participate in a common cell function

31
Q

True or false: recessive alleles do not produce functional enzymes

A

True

32
Q

What can a gene interaction result in

A

A gene modifier affect

33
Q

What causes a loss of function allele to have no affect on a phenotype

A

Gene redundancy

34
Q

What is gene duplication

A

Species may have two or more copies of a similar gene

35
Q

What is a paralog

A

When copies of genes are not identical due to random changes during evolution

36
Q

What happens when a protein is missing

A

The function of another protein may be increased to compensate for the missing protein